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Works (22)

Communicating a diagnosis of Dravet syndrome to parents/caregivers: An international Delphi consensus

Epilepsia Open
2025-02 | Journal article
DOI: 10.1002/epi4.13127
Contributors: Andreas Brunklaus; Susanne Schubert‐Bast; Francesca Darra; Katherine Nickels; Delphine Breuillard; Andrea Giuffrida; Claire Eldred; Silke Flege; Elena Cardenal‐Muñoz; Rocío Sánchez‐Carpintero
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The epilepsy–autism phenotype associated with developmental and epileptic encephalopathies: New mechanism‐based therapeutic options

Epilepsia
2025-02-22 | Journal article
DOI: 10.1111/epi.18209
Contributors: Nicola Specchio; Valentina Di Micco; Eleonora Aronica; Stéphane Auvin; Simona Balestrini; Andreas Brunklaus; Elena Gardella; Mirte Scheper; Maurizio Taglialatela; Marina Trivisano et al.
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Reply: Age at onset of genetic disease and genetic dependent stage: evidence from cases with SCN1A variants

Brain
2025-02-15 | Journal article
DOI: 10.1093/brain/awaf065
Contributors: Andreas Brunklaus
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Trauma, coping, and adjustment when parenting a child with Dravet syndrome

European Journal of Paediatric Neurology
2025-01 | Journal article
DOI: 10.1016/j.ejpn.2025.01.002
Contributors: Anthony Mercier; Liam Dorris; Andreas Brunklaus; Joseph D. Symonds; Sameer M. Zuberi; Teresa Finch; Galia Wilson; Claire Eldred
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Autism and attention‐deficit/hyperactivity disorder in Dravet syndrome

Developmental Medicine & Child Neurology
2024-11 | Journal article
DOI: 10.1111/dmcn.15978
Contributors: Andreas Brunklaus
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POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia

Epilepsia
2024-11 | Journal article
DOI: 10.1111/epi.18115
Contributors: Joseph D. Symonds; Kristen L. Park; Cyril Mignot; Stewart Macleod; Martin Armstrong; Houman Ashrafian; Geneviève Bernard; Kathleen Brown; Andreas Brunklaus; Mary Callaghan et al.
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Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study

Epilepsia
2024-02 | Journal article
DOI: 10.1111/epi.17850
Contributors: M. Scott Perry; Ingrid E. Scheffer; Joseph Sullivan; Andreas Brunklaus; Susana Boronat; James W. Wheless; Linda Laux; Anup D. Patel; Colin M. Roberts; Dennis Dlugos et al.
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Dravet syndrome: A systematic literature review of the illness burden

Epilepsia Open
2023-12 | Journal article
DOI: 10.1002/epi4.12832
Contributors: Adam Strzelczyk; Lieven Lagae; Jo M Wilmshurst; Andreas Brunklaus; Pasquale Striano; Felix Rosenow; Susanne Schubert‐Bast
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Long-term predictors of developmental outcome and disease burden in SCN1A-positive Dravet syndrome

Brain Communications
2023-12-28 | Journal article
DOI: 10.1093/braincomms/fcae004
Contributors: Tony Feng; Phoebe Makiello; Benjamin Dunwoody; Felix Steckler; Joseph D Symonds; Sameer M Zuberi; Liam Dorris; Andreas Brunklaus
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Prophecy or empiricism? Clinical value of predicting versus determining genetic variant functions

Epilepsia
2023-11 | Journal article
DOI: 10.1111/epi.17743
Contributors: Andreas Brunklaus; Alfred L. George, Jr; Dennis Lal; Erin L. Heinzen; Alica M. Goldman
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Comorbidities and predictors of health‐related quality of life in Dravet syndrome: A 10‐year, prospective follow‐up study

Epilepsia
2023-04 | Journal article
DOI: 10.1111/epi.17531
Contributors: Phoebe Makiello; Tony Feng; Benjamin Dunwoody; Felix Steckler; Joseph Symonds; Sameer M. Zuberi; Liam Dorris; Andreas Brunklaus
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Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

Brain
2023-03-01 | Journal article
DOI: 10.1093/brain/awac305
Contributors: Tobias Brünger; Eduardo Pérez-Palma; Ludovica Montanucci; Michael Nothnagel; Rikke S Møller; Stephanie Schorge; Sameer Zuberi; Joseph Symonds; Johannes R Lemke; Andreas Brunklaus et al.
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Delineation of functionally essential protein regions for 242 neurodevelopmental genes

Brain
2023-02-13 | Journal article
DOI: 10.1093/brain/awac381
Contributors: Sumaiya Iqbal; Tobias Brünger; Eduardo Pérez-Palma; Marie Macnee; Andreas Brunklaus; Mark J Daly; Arthur J Campbell; David Hoksza; Patrick May; Dennis Lal
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Gene variant effects across sodium channelopathies predict function and guide precision therapy

Brain
2022-12-19 | Journal article
DOI: 10.1093/brain/awac006
Contributors: Andreas Brunklaus; Tony Feng; Tobias Brünger; Eduardo Perez-Palma; Henrike Heyne; Emma Matthews; Christopher Semsarian; Joseph D Symonds; Sameer M Zuberi; Dennis Lal et al.
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The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Brain
2022-11-21 | Journal article
DOI: 10.1093/brain/awac210
Contributors: Andreas Brunklaus; Tobias Brünger; Tony Feng; Carmen Fons; Anni Lehikoinen; Eleni Panagiotakaki; Mihaela-Adela Vintan; Joseph Symonds; James Andrew; Alexis Arzimanoglou et al.
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Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies

Neurology
2022-01-24 | Journal article
DOI: 10.1212/WNL.0000000000200028
Contributors: Andreas Brunklaus; Eduardo Pérez-Palma; Ismael Ghanty; Ji Xinge; Eva Brilstra; Berten Ceulemans; Nicole Chemaly; Iris de Lange; Christel Depienne; Renzo Guerrini et al.
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Proposal to optimize evaluation and treatment of Febrile infection‐related epilepsy syndrome (FIRES): A Report from FIRES workshop

Epilepsia Open
2021-03 | Journal article
DOI: 10.1002/epi4.12447
Contributors: Sookyong Koh; Elaine Wirrell; Annamaria Vezzani; Rima Nabbout; Eyal Muscal; Marios Kaliakatsos; Ronny Wickström; James J. Riviello; Andreas Brunklaus; Eric Payne et al.
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Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Science Translational Medicine
2020-08-12 | Journal article
DOI: 10.1126/scitranslmed.aay6848
Contributors: Henrike O. Heyne; David Baez-Nieto; Sumaiya Iqbal; Duncan S. Palmer; Andreas Brunklaus; Patrick May; Katrine M. Johannesen; Stephan Lauxmann; Johannes R. Lemke; Rikke S. Møller et al.
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Sodium channel epilepsies and neurodevelopmental disorders: from disease mechanisms to clinical application

Developmental Medicine & Child Neurology
2020-07 | Journal article
DOI: 10.1111/dmcn.14519
Contributors: Andreas Brunklaus; Dennis Lal
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Knowing when and how to use epilepsy screening questionnaires

Epilepsia
2020-04 | Journal article
DOI: 10.1111/epi.16462
Contributors: Andreas Brunklaus
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Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

Epilepsia
2020-03 | Journal article
DOI: 10.1111/epi.16438
Contributors: Andreas Brunklaus; Juanjiangmeng Du; Felix Steckler; Ismael I. Ghanty; Katrine M. Johannesen; Christina Dühring Fenger; Stephanie Schorge; David Baez‐Nieto; Hao‐Ran Wang; Andrew Allen et al.
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SCN1A variants from bench to bedside—improved clinical prediction from functional characterization

Human Mutation
2020-02 | Journal article
DOI: 10.1002/humu.23943
Contributors: Andreas Brunklaus; Stephanie Schorge; Alexander D. Smith; Ismael Ghanty; Kirsty Stewart; Sarah Gardiner; Juanjiangmeng Du; Eduardo Pérez‐Palma; Joseph D. Symonds; Abby C. Collier et al.
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